Logo image
Back
Cornelia de Lange syndrome in diverse populations
Journal article   Open access   Peer reviewed

Cornelia de Lange syndrome in diverse populations

Leah Dowsett, Antonio R Porras, Paul Kruszka, Brandon Davis, Tommy Hu, Engela Honey, Eben Badoe, Meow-Keong Thong, Eyby Leon, Katta M Girisha, …
American journal of medical genetics. Part A, v 179(2), pp 150-158
Feb 2019
DOI: https://doi.org/10.1002/ajmg.a.61033
PMID: 30614194
Featured in Collection :   UN Sustainable Development Goals @ Drexel
url
https://doi.org/10.1002/ajmg.a.61033View
Published, Version of Record (VoR)Open Access (License Unspecified),  Open

Abstract

Abnormalities, Multiple - epidemiology Abnormalities, Multiple - genetics Abnormalities, Multiple - physiopathology Adolescent Adult Cell Cycle Proteins - genetics Child Child, Preschool Chondroitin Sulfate Proteoglycans - genetics Chromosomal Proteins, Non-Histone - genetics Continental Population Groups - genetics De Lange Syndrome - epidemiology De Lange Syndrome - genetics De Lange Syndrome - physiopathology Face - physiopathology Female Humans Image Processing, Computer-Assisted Infant Infant, Newborn Intellectual Disability - epidemiology Intellectual Disability - genetics Intellectual Disability - physiopathology Male Mutation Phenotype Young Adult
Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short nose with depressed bridge and anteverted nares, long philtrum, thin lips, micrognathia, and hypertrichosis. Most affected individuals have intellectual disability, growth deficiency, and upper limb anomalies. This study looked at individuals from diverse populations with both clinical and molecularly confirmed diagnoses of CdLS by facial analysis technology. Clinical data and images from 246 individuals with CdLS were obtained from 15 countries. This cohort included 49% female patients and ages ranged from infancy to 37 years. Individuals were grouped into ancestry categories of African descent, Asian, Latin American, Middle Eastern, and Caucasian. Across these populations, 14 features showed a statistically significant difference. The most common facial features found in all ancestry groups included synophrys, short nose with anteverted nares, and a long philtrum with thin vermillion of the upper lip. Using facial analysis technology we compared 246 individuals with CdLS to 246 gender/age matched controls and found that sensitivity was equal or greater than 95% for all groups. Specificity was equal or greater than 91%. In conclusion, we present consistent clinical findings from global populations with CdLS while demonstrating how facial analysis technology can be a tool to support accurate diagnoses in the clinical setting. This work, along with prior studies in this arena, will assist in earlier detection, recognition, and treatment of CdLS worldwide.

Metrics

8 Record Views
35 citations in Web of Science
41 citations in Scopus

Details

UN Sustainable Development Goals (SDGs)

This publication has contributed to the advancement of the following goals:

#3 Good Health and Well-Being

InCites Highlights

Data related to this publication, from InCites Benchmarking & Analytics tool:

Collaboration types
Domestic collaboration
International collaboration
Web of Science research areas
Genetics & Heredity
Logo image